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61.
Eight children (5 living, 3 deceased) with severe hereditary nonspherocytic hemolytic anemia caused by glucose phosphate isomerase deficiency have been observed in two Kentucky and Indiana families. All affected children were severely anemic in early life. Three deaths occurred in young patients who did not receive adequate transfusions of blood or whose parents refused to permit splenectomy. Splenectomy generally abolishes the requirement for blood transfusion. No patient has required regular transfusion of blood after puberty. Growth and development have been surprisingly normal and no patient has died of infection. The anemia is expressed as an autosomal recessive trait, but the enzyme variant can be detected in hematologically normal heterozygotes. The abnormal isomerase molecule is heat labile and is contained in neutrophils and lymphocytes as well as in erythrocytes. 相似文献
62.
Nieman DC Austin MD Chilcote SM Benezra L 《International journal of sport nutrition and exercise metabolism》2005,15(2):186-194
The purpose of this study was to assess the validity and reliability of the MedGem device to measure resting metabolic rate (RMR) in children. Subjects included 59 children (29 boys, 30 girls; mean age, 11.0 +/- 0.2 y). Subjects were given 4 RMR tests during 1 test session, cconsisting of 2 Douglas bag and 2 MedGem tests, in random counterbalanced order. No significant differences were found between Douglas bag and MedGem systems for oxygen consumption (209 +/- 5 and 213 +/- 5 mL/min, respectively, P = 0.106, r = 0.911, mean +/- standard deviation absolute difference 3.72 +/- 17.40 mL/min) or RMR (1460 +/- 39 and 1477 +/- 35 kcal/d, P = 0.286, r = 0.909, mean +/- standard deviation absolute difference 17.4 +/- 124 kcal/d). Standard error of estimates for oxygen consumption and RMR were 17.4 mL/min and 124 kcal/d, respectively. In conclusion, these data indicate that the MedGem is a reliable and valid system for measuring oxygen consumption and RMR in children. 相似文献
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65.
R R Chilcote W J Rierden R L Baehner 《American journal of diseases of children (1960)》1983,137(10):964-967
The factors that regulate granulopoiesis in vivo are unclear, but recent evidence suggests a role for monocytes; these cells produce a leukopoietin termed colony-stimulating activity (CSA), which stimulates growth of colonies of myeloid cells in vitro. We describe a family in which three of four siblings had neutropenia with myeloid marrow hypoplasia, deafness, and monocytopenia. Two of the three affected siblings died of bacterial septicemia; the third sibling, who resided in a long-term care facility, remained relatively free of infections. Studies of this patient's peripheral blood disclosed deficient CSA production consistent with the virtual absence of monocytes. These findings support the purported role of monocytes as a source of peripheral blood leukopoietic factors. 相似文献
66.
H A Pearson D Gallagher R Chilcote E Sullivan J Wilimas M Espeland A K Ritchey 《Pediatrics》1985,76(3):392-397
Splenic function in sickle hemoglobinopathy syndromes was assessed to determine the developmental pattern of splenic dysfunction. Nonvisualization of the spleen using technetium-99 metastable (99mTc) spleen scans correlated strongly with pocked (vesiculated) RBCs greater than or equal to 3.5%. Cross-sectional analysis of pocked RBC data from 2,086 patients showed differences in the developmental pattern of splenic dysfunction between several disorders. In hemoglobin SS disease (sickle cell anemia) and hemoglobin S beta(0) thalassemia, splenic dysfunction (greater than or equal to 3.5% pocked RBCs) often occurred in the first 6 to 12 months of life. In hemoglobin S beta(+) thalassemia, splenic dysfunction occurred less frequently and later. Splenic dysfunction in hemoglobin SC disease (sickle cell-hemoglobin C) was intermediate. The level of pocked RBCs was inversely associated with fetal hemoglobin (P less than .007) and directly associated with age (P less than or equal to .001). These patterns of splenic dysfunction reflect the known severity of hemolysis and intravascular sickling and are consistent with the epidemiology of severe bacterial meningitis and sepsis in these diseases. Serial measurement of pocked RBCs permits determination of the onset of splenic dysfunction and the time of increased susceptibility to severe bacterial infections. 相似文献
67.
J R Anderson J F Wilson D T Jenkin A T Meadows J Kersey R R Chilcote P Coccia P Exelby J Kushner S Siegel D Hammond 《The New England journal of medicine》1983,308(10):559-565
Members of the Childrens Cancer Study Group treated 234 eligible patients in a randomized trial designed to study the relative effectiveness of two therapy programs for the treatment of childhood and adolescent non-Hodgkin's lymphoma. Two chemotherapeutic strategies were compared: a 4-drug regimen (COMP) and a 10-drug regimen (modified LSA2-L2). Failure-free survival for all patients was 60 per cent at 24 months. In patients with disseminated disease treatment success was influenced by both the histologic subtype of disease and the therapeutic regimen followed. The 10-drug program was more effective than the 4-drug program in patients with disseminated lymphoblastic disease (two-year failure-free survival rate, 76 vs. 26 per cent, respectively; P = 0.0002), whereas the 4-drug program was more effective than the 10-drug program in those with nonlymphoblastic disease (57 vs. 28 per cent, respectively, P = 0.008). The less toxic, more easily administered 4-drug regimen was as effective as the 10-drug regimen in patients with localized disease (89 vs. 84 per cent, respectively). 相似文献
68.
Chromosome and cytologic studies were performed on three Down's syndrome (DS) patients with acute nonlymphocytic leukemia (ANLL). All three patients had an aneuploid clone in their leukemic cells: 50, XX, +6, +19, +21, +22, +8, XX, +21, and 47,XY, +8, - 21 +dic(21;21)(p13;p11). Every patient appeared to have acute undifferentiated leukemia when the blast cells were examined with Wright-Giemsa stain; cytochemistry studies, however, showed that the leukemic blasts were in an early stage of myeloid differentiation. The two patients with +8 had a preleukemic phase; the blast cells of the patient with an extra no. 19 and no.22 could not be differentiated morphologically from those of the two patients with an extra no. 8. Our findings and a review of data on 40 other patients suggest that most DS children with ANLL have hyperdiploidy, which is usually related to gains of C, F, and /or G chromosomes, and that the abnormalities of +8 and of +19, +22 in DS children may be associated with acute leukemia (AL) in an early stage of myeloid differentiation. 相似文献